LOCUS       NM_181703               3177 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens gap junction protein alpha 5 (GJA5), transcript
            variant B, mRNA.
ACCESSION   NM_181703
VERSION     NM_181703.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3177)
  AUTHORS   Zhai,P., Zhang,H., Li,Q., Yang,M., Guo,Y. and Xing,C.
  TITLE     DNMT1-mediated NR3C1 DNA methylation enables transcription
            activation of connexin40 and augments angiogenesis during
            colorectal cancer progression
  JOURNAL   Gene 892, 147887 (2024)
   PUBMED   37813207
  REMARK    GeneRIF: DNMT1-mediated NR3C1 DNA methylation enables transcription
            activation of connexin40 and augments angiogenesis during
            colorectal cancer progression.
REFERENCE   2  (bases 1 to 3177)
  AUTHORS   Lian,Z., Ma,Z., Zhang,Z.L., Liu,P.L., Zhang,G.Y. and Guo,C.X.
  TITLE     Association between polymorphisms in connexin 40 gene (Cx40) and
            risk of atrial fibrillation: a meta-analysis based on 3,452
            subjects
  JOURNAL   Biomarkers 28 (6), 519-530 (2023)
   PUBMED   37382580
  REMARK    GeneRIF: Association between polymorphisms in connexin 40 gene
            (Cx40) and risk of atrial fibrillation: a meta-analysis based on
            3,452 subjects.
REFERENCE   3  (bases 1 to 3177)
  AUTHORS   Touat-Hamici,Z., Blancard,M., Ma,R., Lin,L., Iddir,Y., Denjoy,I.,
            Leenhardt,A., Yuchi,Z. and Guicheney,P.
  TITLE     A SPRY1 domain cardiac ryanodine receptor variant associated with
            short-coupled torsade de pointes
  JOURNAL   Sci Rep 11 (1), 5243 (2021)
   PUBMED   33664309
  REMARK    GeneRIF: A SPRY1 domain cardiac ryanodine receptor variant
            associated with short-coupled torsade de pointes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3177)
  AUTHORS   Zhao,Z., Liu,G., Zhang,H., Ruan,P., Ge,J. and Liu,Q.
  TITLE     BIRC5, GAJ5, and lncRNA NPHP3-AS1 Are Correlated with the
            Development of Atrial Fibrillation-Valvular Heart Disease
  JOURNAL   Int Heart J 62 (1), 153-161 (2021)
   PUBMED   33518654
  REMARK    GeneRIF: BIRC5, GAJ5, and lncRNA NPHP3-AS1 Are Correlated with the
            Development of Atrial Fibrillation-Valvular Heart Disease.
REFERENCE   5  (bases 1 to 3177)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 3177)
  AUTHORS   Chen,S.C., Davis,L.M., Westphale,E.M., Beyer,E.C. and Saffitz,J.E.
  TITLE     Expression of multiple gap junction proteins in human fetal and
            infant hearts
  JOURNAL   Pediatr Res 36 (5), 561-566 (1994)
   PUBMED   7877871
REFERENCE   7  (bases 1 to 3177)
  AUTHORS   Kanter,H.L., Saffitz,J.E. and Beyer,E.C.
  TITLE     Molecular cloning of two human cardiac gap junction proteins,
            connexin40 and connexin45
  JOURNAL   J Mol Cell Cardiol 26 (7), 861-868 (1994)
   PUBMED   7966354
REFERENCE   8  (bases 1 to 3177)
  AUTHORS   Guo,R. and Haldeman-Englert,C.R.
  TITLE     1q21.1 Recurrent Deletion
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21348049
REFERENCE   9  (bases 1 to 3177)
  AUTHORS   Kanter,H.L., Saffitz,J.E. and Beyer,E.C.
  TITLE     Cardiac myocytes express multiple gap junction proteins
  JOURNAL   Circ Res 70 (2), 438-444 (1992)
   PUBMED   1310450
REFERENCE   10 (bases 1 to 3177)
  AUTHORS   Willecke,K., Jungbluth,S., Dahl,E., Hennemann,H., Heynkes,R. and
            Grzeschik,K.H.
  TITLE     Six genes of the human connexin gene family coding for gap
            junctional proteins are assigned to four different human
            chromosomes
  JOURNAL   Eur J Cell Biol 53 (2), 275-280 (1990)
   PUBMED   1964417
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX377692.2, BC013313.2,
            AF074995.1 and BM970701.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_181703.3.
            
            Summary: This gene is a member of the connexin gene family. The
            encoded protein is a component of gap junctions, which are composed
            of arrays of intercellular channels that provide a route for the
            diffusion of low molecular weight materials from cell to cell.
            Mutations in this gene may be associated with atrial fibrillation.
            Alternatively spliced transcript variants encoding the same isoform
            have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (B) differs in the 5' UTR compared
            to variant A. Variants A and B encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC013313.2, SRR7346977.1420562.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398, SAMN03568912
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000579774.3/ ENSP00000463851.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BX377692.2         5-29
            26-2192             BC013313.2         1-2167
            2193-2616           AF074995.1         153-576
            2617-3177           BM970701.1         18-578              c
FEATURES             Location/Qualifiers
     source          1..3177
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..3177
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /note="gap junction protein alpha 5"
                     /db_xref="GeneID:2702"
                     /db_xref="HGNC:HGNC:4279"
                     /db_xref="MIM:121013"
     exon            1..104
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /inference="alignment:Splign:2.1.0"
     exon            105..3177
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1214
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /note="connexin 40; gap junction protein alpha 5 40kDa"
                     /codon_start=1
                     /product="gap junction alpha-5 protein"
                     /protein_id="NP_859054.1"
                     /db_xref="CCDS:CCDS929.1"
                     /db_xref="GeneID:2702"
                     /db_xref="HGNC:HGNC:4279"
                     /db_xref="MIM:121013"
                     /translation="MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESS
                     WGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRM
                     QEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
                     TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALS
                     LLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPG
                     GKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLP
                     HGYHSDKRRLSKASSKARSDDLSV"
     regulatory      3155..3160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /note="hexamer: AATAAA"
     polyA_site      3177
                     /gene="GJA5"
                     /gene_synonym="ATFB11; CX40"
                     /note="major polyA site"
ORIGIN      
        1 ggtgatacag aagaaaagac agtctccatt ttcaaacagt ccctcctggg agaacacaga
       61 caggcagagg attacaacac aaggcagcaa gcactgggag acgaaagttt tggcatctgt
      121 tccctggctg tgccaagatg ggcgattgga gcttcctggg aaatttcctg gaggaagtac
      181 acaagcactc gaccgtggta ggcaaggtct ggctcactgt cctcttcata ttccgtatgc
      241 tcgtgctggg cacagctgct gagtcttcct ggggggatga gcaggctgat ttccggtgtg
      301 atacgattca gcctggctgc cagaatgtct gctacgacca ggctttcccc atctcccaca
      361 ttcgctactg ggtgctgcag atcatcttcg tctccacgcc ctctctggtg tacatgggcc
      421 acgccatgca cactgtgcgc atgcaggaga agcgcaagct acgggaggcc gagagggcca
      481 aagaggtccg gggctctggc tcttacgagt acccggtggc agagaaggca gaactgtcct
      541 gctgggagga agggaatgga aggattgccc tccagggcac tctgctcaac acctatgtgt
      601 gcagcatcct gatccgcacc accatggagg tgggcttcat tgtgggccag tacttcatct
      661 acggaatctt cctgaccacc ctgcatgtct gccgcaggag tccctgtccc cacccggtca
      721 actgttacgt atcccggccc acagagaaga atgtcttcat tgtctttatg ctggctgtgg
      781 ctgcactgtc cctcctcctt agcctggctg aactctacca cctgggctgg aagaagatca
      841 gacagcgatt tgtcaaaccg cggcagcaca tggctaagtg ccagctttct ggcccctctg
      901 tgggcatagt ccagagctgc acaccacccc ccgactttaa tcagtgcctg gagaatggcc
      961 ctgggggaaa attcttcaat cccttcagca ataatatggc ctcccaacaa aacacagaca
     1021 acctggtcac cgagcaagta cgaggtcagg agcagactcc tggggaaggt ttcatccagg
     1081 ttcgttatgg ccagaagcct gaggtgccca atggagtctc accaggtcac cgccttcccc
     1141 atggctatca tagtgacaag cgacgtctta gtaaggccag cagcaaggca aggtcagatg
     1201 acctatcagt gtgaccctcc tttatgggag gatcaggacc aggtgggaac aaaggaggct
     1261 cagagaggaa agacgtgtcc cttctgaact gatgctttct cactgtcatc actgcttggc
     1321 tcctttgagc cccgggtctc aatgacgttg ctcattaatt ctagaaacta taaccagggc
     1381 tctgggatag taagagaggt gacaacccac ccagactgca gttccctccc caccctctac
     1441 ccagtatacg aagcctttca gattactcat gaaacagggt agagggaaag aagggaagca
     1501 tggcaaaagc tggcctggaa gggatagcca gagggataga atgactctct ctctacatac
     1561 cagcagcata ccaaatgcgt tctctaagtt cctacctcct tgacctgatc accctccctc
     1621 ctccaaggaa gagctcaaag ttcccagcca atagacagca tgaatcaagg aacttgcatt
     1681 atatgtgctc ttgaatctgt tgtctccatg gaccattcct cggagtagtg gtgagatggc
     1741 cttgggttgc ccttggcttc tcctccctct actcagcctt aaaaagggct tcttggaact
     1801 ttaccagcag cctcagcttt acaaatgcct tggtatgtac ctctggcaaa tgccctggta
     1861 tgtacctctg gcaaatgccc caccttggtg atgttgcaac ctttccttct gctagggtgt
     1921 acacctagcc tgtgcaggtg tcagccctgc tagggagtca ctgtacacac aaactctact
     1981 ggaattcctg ccaacatctg tcaccctgca gctcctttac agttcaatcc aatgatagaa
     2041 accatccctt ccctttctcc cttggctgtt cacccagcca ttccctgaag gccttaccaa
     2101 caggaatatc caagaagctg ttgtcctctc tcgaaccctg accagatcat cagccactga
     2161 ggccagtgga atttccccag gccttgttaa aacaaagaaa gcattgtact tctcagattc
     2221 cccttgtgga aaaaaaaatt ctgctgtgaa gatgaaaata aaaatggaga gaaaacactg
     2281 gaaaactatt ttcccctcct atttacttcc tttgctgact gccaacttag tgccaagagg
     2341 aggtgtgatg acagctatgg aggcccccag atctctctct cctggaggct ttagcagggg
     2401 caaggaaata gtaggggaat ctccagctct cttggcaggg cctttattta aagagcgcag
     2461 agattcctat gtctccctag tgcccctaat gagactgcca agtgggggct gtagaaaagc
     2521 cttgccttcc ccagggattg gcctggtctc tgtattcact ggatccataa tgggttgctg
     2581 ttgttttgga tgaaggtaaa cgatgcttgg aattggaaac tgagacttat agagggatta
     2641 ttacattatt aaaatgcacg tgtgtgtgtg tgtgggtgct gatgggatgg gtaaaggctt
     2701 ggggagtcct gaaataagga aaggaaacca cagagaaact tgtgtcttcc tgctctcctc
     2761 tccggctgcc tggcagttat taacctaaac agatagccac aagaggttgg gacagaggag
     2821 ggtaaaggct cagaaggagg ttcaacctct gactcacctg cccatctctg ggccctctgc
     2881 tgacacttgg atgctattgt tgggtggaaa gataaatgag agtggagagg tggaggaaag
     2941 tgactaggat gccatttagg aaggaatgtc tgatcatccc gggtccctgg aggggacacc
     3001 ttttaatcta ttgcctagca ttaatatttt ctctccttct atctctgaaa tgttttatga
     3061 aatgagtgtt cttgaattag aaattctgtg ggatcaatct ttgatggtga gggttttaga
     3121 aaggaaaaat atagtaaaat gtgtaatttg tcttaataaa atctatctct acatcta
//
